Polymerase DNA Directed Alpha 1 (POLa1)

POLA; p180; DNA polymerase alpha catalytic subunit p180

SPN	R115
HGNC	9173
MGI	99660
PubMed	23204468
UniProt	P09884
Wiki	POLA1

Hanaoka et al. (1985) complemented a temperature-sensitive defect in murine POLA by fusing the defective mouse cells with human cells. A gene present on Xpter-q22 was responsible for correcting the defect. Wang et al. (1985) used a monoclonal antibody that distinguishes human from rodent DNA polymerase alpha to study human-rodent cell hybrids. They mapped the gene to a site near the junction of Xp21.3 and Xp22.1 (perhaps Xp21.12-p21.11) and showed that it is not expressed in an inactive X chromosome. They concluded that POLA is distal to DMD and CGD but proximal to STS. They predicted that mosaic nullisomy in a female resulting from deletion of this gene could not exist and that hemizygosity for deletion of the gene in a male would be lethal because of the essentiality of the gene to the catalytic activity of DNA polymerase alpha.

Reference

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Nucleic Acids Res. 18:6231-6237(1990) [PubMed] [Europe PMC] [Abstract]

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